Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial DNA depletion syndrome 18
DOID:0070449
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mitochondrial DNA depletion syndrome 18

Definition
A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.
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